Driving Genetic Testing Adoption and Improved Patient Care through Health Data Intelligence

Genetic testing has the potential to transform patient care. The potential of precision medicine lies in the possibility that insights from our genetic code may hold the key to preventing disease, optimizing treatments, and even living a healthier life. While much progress has been made, there are still obstacles that need to be addressed to realize this vision and advance new discoveries so genetic testing is routine in clinical care.

With great power also comes great responsibility, and the genetic testing industry faces a crucial challenge: how to harness the potential of genetic data through sharing and collaborating with clinicians and researchers while also safeguarding patient privacy and informed consent. 

One crucial part of the equation is information technology security. For example, HITRUST certification establishes standards to safeguard sensitive information and manage information risk through collaboration with leaders in privacy, information security, and risk management. HITRUST helps organizations stay current with the latest security and privacy standards to ensure sensitive data is protected effectively and efficiently.

While the genetic testing industry acknowledges the immense value of responsible data sharing in advancing medical knowledge and patient care, it must also balance this with a commitment to patient privacy. Rigorous data de-identification techniques and consortium-driven interoperability standards are helping achieve both goals. 

Collaborative efforts in genetic testing 

Genetic testing and precision medicine companies have been moving medicine forward by contributing de-identified variant data to public health databases, such as ClinVAR and the SEER Cancer Registries. By adding and maintaining high-quality genetic variants within these databases, the information can be used to ensure the quality and consensus of variant interpretation for clinical reporting and for longitudinal studies of real-world outcomes.

Additionally, many researchers and clinicians are leveraging cancer research registries to discover deeper insights and accelerate the pace of patient care. This registry includes more than 1.2 million de-identified patient genetic results from germline and somatic testing. The platform is free to access for those who submit approved research abstracts. 

Registries like this advance understanding of disease by getting an expansive data set in the hands of interested researchers – ultimately enabling them to easily access and assess data, run their own queries, and test hypotheses. By enabling access, these companies are tearing down the barriers that have traditionally hindered scientific progress, resulting in a more inclusive research environment in which the focus is on patients.

This collaborative approach lays a foundation for a healthier world, one test at a time. Each fragment of genetic data adds to a clearer picture of human health, already yielding notable advances – such as tailored treatment plans with better outcomes and fewer side effects, and new biological discoveries that pave the way for earlier disease detection and intervention.

Electronic Health Record integration 

Using de-identified genetic information in aggregate is just the start of how to maximize the impact of genetic testing. To better care for an individual patient case, an important step is working with Electronic Health Record (EHR) providers to create an end-to-end workflow with EHR data integrations, while still adhering to the more rigorous requirements that apply to protected health information (PHI) and genetic information. For example, some genetic testing information is governed by state laws, some of which are more restrictive than HIPAA laws.

The EHR integration can help healthcare providers order genetic tests and review results directly within their existing clinical platforms. By integrating genetic test results and structured discrete variant data with other clinical information, providers and patients gain the healthcare insights needed to support informed, timely decisions. 

Collaborations among some of the world’s leading genetic testing companies and major EHR vendors such as Epic, Flatiron, or Athena show several benefits, including: 

• Making it easier for providers to order genetic products directly within the main patient chart
• Optimizing screening protocols and selected therapy based on genetic insights
• Identifying potential pharmacogenetic drug interactions within prescription systems 
• Facilitating bi-directional data exchange of clinical indications linked to genomic variants linked to outcomes to power research (if a separate research authorization or IRB [Institutional Review Board] waiver of authorization is granted) 

These agreements effectively break down silos between those with detailed genomic data (the testing labs) and those with comprehensive clinical phenotypes (the EHRs).

Overcoming challenges 

The road to integrating genetic testing into mainstream medicine is not without its challenges. The sheer volume of genomic data is staggering. The next hurdle is making sense of all that raw data in a myriad of formats. To make all this raw data usable and able to produce medical insights, companies are working to solve several key challenges such as: 

• Presentation of complex clinical interpretation in the EHR – Genomic tests go beyond simple positive/negative findings to include complex medical management tools, treatment recommendations, and clinical trial options.
• Integration of common ontologies – Successful data sharing requires accurate integration of data. For example, Myriad Genetics is working with GenomeX in an effort to ensure data is in a standardized, machine-readable format, enabling interoperability of genomic data and EHR using FHIR. 
• Fragmentation of data sources – Precision medicine often requires synthesizing information from multiple systems. Joining that de-identified data from various sources requires tokenization of patient identifiers (i.e., Datavant), so that it can be made available in research portals – allowing for immediate exploration and analysis.
• Data privacy assurances – Robust frameworks are being implemented to manage data access, de-identification, and consent and cohort access – all to ensure privacy and compliance. 

Looking ahead

The genetic testing industry is poised for significant advancements. In fact, several key trends are emerging for 2025 and beyond.

For example, scientists are developing tests that detect the earliest signs of cancer recurrence – long before traditional methods by searching for 1,000+ unique variants DNA that “fingerprint” one’s unique cancer in cell free DNA.

Additionally, the industry is shifting from a focus on DNA alone to a “multi-omics” approach that integrates RNA, proteins and even AI analysis of spatially resolved markers on tissues at single-cell resolution. The true innovators will be able to integrate all these modalities into a one-stop genetic testing solution that offers a comprehensive view of a patient’s potential health risks. 

And on the horizon? The integration of generative AI into genetic testing workflows is an exciting development. Companies are exploring the use for extracting and authoring medical necessity documentation, appeals for reimbursement, and genetic counseling support.

Genetic testing represents more than just scientific advancement – it’s a fundamental shift in how we approach health and wellness. By fostering collaboration and seamless data integration into healthcare systems, the industry is laying the groundwork for a future in which “personalized medicine” is so commonplace within clinical practice that we will just start calling it “medicine.”

As public understanding grows and technology continues to advance, we find ourselves at the dawn of a new era in healthcare. One where our genetic code is more than a sequence of letters – it’s a roadmap to better health and longer lives.

Photo by Flickr user Petra B. Fritz

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